MSH2 E580*
Gene Variant Detail

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Gene MSH2
Variant E580*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions MSH2 E580* results in a premature truncation of the Msh2 protein at amino acid 580 of 934 (UniProt.org). E580* has not been characterized however, due to the loss of the ATPase domain (PMID: 17531815, PMID: 23391514), is predicted to lead to a loss of Msh2 protein function.
Associated Drug Resistance
Category Variants Paths

MSH2 mutant MSH2 inact mut MSH2 E580*

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Transcript NM_000251.3
gDNA chr2:g.47471041G>T
cDNA c.1738G>T
Protein p.E580*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406633.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406639.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406646.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
XM_011532867 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406648.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406631.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406643.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
XM_005264332 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406634.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406635.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406645.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_000251.3 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406641.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
XM_011532867.2 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406655.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
XM_047444416.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
XM_005264332.4 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406632.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406642.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406674.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406640.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406637.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_000251.2 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_001406644.1 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38
NM_000251 chr2:g.47471041G>T c.1738G>T p.E580* RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MSH2 inact mut endometrial adenocarcinoma sensitive Baicalein Preclinical - Cell line xenograft Actionable In a preclinical study, Baicalein selectively induced cell death in an endometrial adenocarcinoma cell line with MSH2 inactivation in culture, and induced apoptosis and tumor shrinkage in MSH2-deficient endometrial adenocarcinoma cell line xenograft models (PMID: 27262172). 27262172
MSH2 inact mut colon cancer sensitive Baicalein Preclinical Actionable In a preclinical study, treatment with Baicalein resulted in decreased growth of azoxymethane/dextran sodium sulfate-induced colon tumors in a MSH2-deficient mouse model (PMID: 27262172). 27262172
MSH2 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MSH2 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
MSH2 mutant rectum cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). detail...
MSH2 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MSH2 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org). detail...
MSH2 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
MSH2 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline mutations in MSH2 result in Lynch syndrome, which is associated with increased risk of ovarian cancer (NCCN.org). detail...
MSH2 mutant adrenocortical carcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing adrenocortical carcinoma (NCCN.org). detail...